Full data view for gene SLCO2A1

Information The variants shown are described using the NM_005630.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - VUS g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR2 - - - - - - North African - 0 - - 1 Ian Carr
+/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - pathogenic g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR2 - - - - - Afghanistan North African - 0 - - 1 Ian Carr
+/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - pathogenic g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR2 - - Asymptomatic aged 19y F - - North African - 0 - - 1 Ian Carr
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